偶然发现的 MEN2A RET 变种的携带者中甲状腺髓癌风险和死亡率
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Courtney E West1, Uyenlinh L Mirshahi2, Katherine S Ruth1
1Department of Clinical and Biomedical Sciences, University of Exeter Medical School, Exeter, United Kingdom.
JAMA network open
|June 27, 2025
概括
与临床确定的变异相比,偶然发现RET变异的个体患甲状腺髓癌的风险要低得多. 这一发现支持在基因查和管理方面做出更明智的临床决策.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 内分泌学 在内分泌学.
- 在瘤学瘤学.
背景情况:
- 在RET原型瘤基因中的生殖系致病变体是多发性内分泌瘤2型 (MEN2) 的首要原因.
- MEN2与甲状腺髓癌 (MTC) 的发展密切相关.
- 在无症状个体中,越来越多的RET变体的偶然识别需要了解它们的相关风险.
研究的目的:
- 评估临床未选择的个体与偶尔发现的RET变异的MTC风险和全因死亡率.
- 为了比较偶然发现的RET变异携带者与临床确定的RET变异携带者的MTC风险.
主要方法:
- 使用英国生物银行 (n=383,914) 和盖辛格MyCode队列 (n=122,640) 的前性队列研究.
- 对照组包括1078名临床确诊的RET变体 (怀疑MEN2) 个体.
- 使用生存分析评估MTC风险和全因死亡率,并根据年龄和性别进行调整.
主要成果:
- 在0.04% (英国生物库) 和0.06% (美国队列) 的个体中发现了致病性RET变异.
- 在75岁时估计的MTC风险在偶尔识别的变种携带者中显著降低 (2.2%英国,19.3%美国) 与临床确诊病例 (95.7%) 相比.
- 在没有甲状腺切除术的英国生物库队列中,在75岁时,所有原因的死亡率在RET变异携带者和非携带者之间是相似的.
结论:
- 偶然的RET变异,主要是中度风险,与从临床确定的队列中显著低于以前理解的MTC风险有关.
- 这些发现解决了一个关键的知识差距,使得更精确的风险分层和有信息的临床决策对于偶发RET变异的个体.
- 该研究强调了根据确定背景 (偶然与临床怀疑) 区分风险的重要性.
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